A curated catalogue of human genomic structural variation




Variant Details

Variant: essv19288



Internal ID9617322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:48525311..48759475hg38UCSC Ensembl
Innerchr17:46602673..46836837hg19UCSC Ensembl
Innerchr17:43957672..44191836hg18UCSC Ensembl
Innerchr17:43957672..44191836hg17UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38234165
hg19234165
hg18234165
hg17234165
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758459
Supporting Variants
SamplesNA10838
Known GenesHOXB1, HOXB13, HOXB2, HOXB3, HOXB4, HOXB5, HOXB6, HOXB7, HOXB8, HOXB9, HOXB-AS1, HOXB-AS3, MIR10A, MIR196A1, MIR3185, PRAC1, PRAC2
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)essv19288
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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